Varaico: Literature-Extracted Genetic Variants

Gene:CBARP
Variant:p.S248F

CBARP

73 papers

Pfam Domains

CBARPaa 34–483UCSCVoltage-dependent calcium channel beta subunit-associated regulator
CBARPaa 513–632UCSCVoltage-dependent calcium channel beta subunit-associated regulator

Gene Aliases

HGNC Name

CACN subunit beta associated regulatory protein

HGNC Previous Symbol

C19orf26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393918.1
p.S248F
c.743C>T
Surrounding Variants
1 paper
NM_001393918.1
p.S256L
c.767C>T
1 paper
NM_001393918.1
p.G212R
c.634G>C
1 paper
NM_001393918.1
p.T180S
c.539C>G
1 paper
NM_001393918.1
p.T180S
c.538A>T
1 paper
NM_001393918.1
p.V179D
c.536T>A
1 paper
NM_001393918.1
p.V179I
c.535G>A
1 paper
NM_001393918.1
p.Y153C
c.458A>G
1 paper
NM_001393918.1
p.G270R
c.808G>C
1 paper
NM_001393918.1
p.G270R
c.808G>A
1 paper
NM_001393918.1
p.A284E
c.851C>A
1 paper
NM_001393918.1
p.G285S
c.853G>A
1 paper
NM_001393918.1
p.S317_Q318insFs
c.951_952insA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."